Covid-19: Molecular and Clinical Approach

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DOI :10.26650/BB/CH22.2020.008.07   IUP :10.26650/BB/CH22.2020.008.07    Full Text (PDF)

Inter-Populations Comparative Analysis of the ACE2, TMPRSS2, CTSB and CTSL Gene Variants Identified in Turkish Individuals

Ayşe Evrim Bayrak, Güven Toksoy, Zehra Oya Uyguner, Birsen Karaman, Seher Başaran

Objective: Recent research studies have suggested that susceptibility to SARS-CoV-2 infection might be associated with genetic variants of host machinery for viral entry. The allele frequencies of ACE2, TMPRSS2, CTSB, and CTSL gene variants defined as viral entry machinery have significant differences among population groups, but there is no information in the Turkish population. To provide a basis for future studies on susceptibility to SARS-CoV-2 infection, these gene variants were screened in a group of Turkish population. Material and Method: We analysed 138 unrelated non-anonymous individuals for single nucleotide variants (SNVs) of the exonic and flanking intronic regions in ACE2, TMPRSS2, CTSB, and CTSL genes using in-house whole exome sequencing data. These defined variants were also compared with other population data sets (gnomAD). Results: For the first time in Turkish individuals, the frequencies of the alternate alleles in these genes were identified in this preliminary analysis study. As a result, three novel SNVs were identified in these genes and it was found that the allele frequencies of some variants were different among the population groups. Conclusion: Whether these variants, if any, contribute to the transmissibility of viral infection, they require to be screened in affected/unaffected study groups and evaluated with functional studies for significant variants to elucidate the roles of these variants in SARS-CoV-2 infection.


Keywords: SARS-CoV-2, viral entry machinery, genetic variants
DOI :10.26650/BB/CH22.2020.008.07   IUP :10.26650/BB/CH22.2020.008.07    Full Text (PDF)

Türk Bireylerde Tanımlanan ACE2, TMPRSS2, CTSB ve CTSL Gen Varyantlarının Populasyonlar Arası Karşılaştırmalı Analizi

Ayşe Evrim Bayrak, Güven Toksoy, Zehra Oya Uyguner, Birsen Karaman, Seher Başaran

Amaç: Son araştırmalar, SARS-CoV-2 enfeksiyonuna yatkınlıkta viral girişin konakçı sistemlerin genetik varyantları ile ilişkili olabileceğini düşündürmektedir. Viral giriş sistemleri (makineleri) olarak tanımlanmış ACE2, TMPRSS2, CTSB ve CTSL genlerindeki varyantların allel frekansları, populasyon grupları arasında önemli farklılıklara sahiptir, ancak Türk popülasyonunda bu konuda herhangi bir bilgi mevcut değildir. SARS-CoV-2 enfeksiyonuna duyarlılık konusunda gelecekteki çalışmalar için bir temel sağlamak amacıyla, Türk bireylerde bu gen varyantları araştırılmıştır. Gereç ve Yöntem: ACE2, TMPRSS2, CTSB ve CTSL genlerindeki ekzonik ve komşu intronik bölgelerin tek nükleotid varyantları (SNV’ler) için kurum içi tüm ekzom sekanslama verileri kullanılarak ilişkisiz 138 kişi analiz edilmiştir. Ayrıca tanımlanmış varyantlar, diğer populasyon veri kümeleriyle (gnomAD) karşılaştırılmıştır. Bulgular: Bu ön çalışmada, ilk kez Türk bireylerin varyant analizleri yapılarak, bu genlerdeki alternatif alellerin frekansları belirlenmiştir. Sonuç olarak, bu genlerde üç yeni SNV tanımlanmış ve bazı varyantların allel frekanslarının populasyon grupları arasında farklı olduğu bulunmuştur. Sonuç: Gelecekte SARS-CoV-2 enfeksiyonunda fonksiyonel çalışmalarla bu varyantların rollerinin belirlenmesi, ayrıca bu varyantların viral enfeksiyonun bulaşabilirliğine katkıda bulunup bulunamayacağı, etkilenmiş/etkilenmemiş çalışma gruplarında araştırılması önem taşımaktadır.


Keywords: SARS-CoV-2, viral giriş makineleri, genetik varyantlar

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